710010005: Mosaic Turner syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Genetic finding\Genetic mosaic\Mosaic Turner syndrome (disorder)

\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Turner syndrome\Mosaic Turner syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Turner syndrome\Mosaic Turner syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3042516012 Mosaic Turner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3042703010 Mosaic Turner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3800431000052111 mosaik-Turners syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic Turner syndrome (disorder)	Is a	Turner syndrome	true	Inferred relationship	Some
Mosaic Turner syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	1
Mosaic Turner syndrome (disorder)	Is a	Genetic mosaic	true	Inferred relationship	Some
Mosaic Turner syndrome (disorder)	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mixed gonadal dysgenesis	Is a	False	Mosaic Turner syndrome (disorder)	Inferred relationship	Some
Mosaicism 45, X; 46, XX	Is a	True	Mosaic Turner syndrome (disorder)	Inferred relationship	Some
Mosaicism 45, X or other cell line with abnormal sex chromosome	Is a	True	Mosaic Turner syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets